Variant report

Variant	rs60122422
Chromosome Location	chr7:152433253-152433254
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:152431661..152434312-chr7:152439068..152440975,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35572575	0.89[EUR][1000 genomes]
rs4526282	0.97[EUR][1000 genomes]
rs73166471	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949483	chr7:151791158-152499822	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1021495	chr7:152032655-152458249	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv539207	chr7:152032655-152458249	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv1033496	chr7:152125903-152615617	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv539208	chr7:152125903-152615617	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv1017565	chr7:152147930-152455272	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	nsv1015722	chr7:152262998-152451023	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1027100	chr7:152294734-152935140	Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv981616	chr7:152300055-152433602	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv831193	chr7:152353544-152592678	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv532221	chr7:152371297-152884547	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv868873	chr7:152371297-152900113	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
13	esv2762712	chr7:152424538-152434873	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152430400-152435600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:152430800-152434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:152431800-152433800	Enhancers	Fetal Brain Male	brain
4	chr7:152431800-152434400	Enhancers	Brain Germinal Matrix	brain
5	chr7:152432200-152434000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:152432400-152433600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:152432400-152433600	Enhancers	HUVEC	blood vessel
8	chr7:152432400-152434000	Enhancers	Fetal Kidney	kidney
9	chr7:152432400-152434200	Enhancers	Fetal Stomach	stomach
10	chr7:152432400-152434400	Enhancers	Fetal Muscle Leg	muscle
11	chr7:152432400-152434600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:152432600-152434200	Enhancers	Fetal Muscle Trunk	muscle
13	chr7:152432800-152433800	Enhancers	Fetal Lung	lung
14	chr7:152432800-152434200	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:152433000-152433600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr7:152433000-152433800	Weak transcription	Left Ventricle	heart
17	chr7:152433000-152434000	Enhancers	Right Atrium	heart
18	chr7:152433000-152434800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:152433200-152433600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr7:152433200-152433800	Enhancers	Hela-S3	cervix

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